Linked Data
dbSNP Id:
rs1559933743
gnomAD v2:
3-148458931-A-G
gnomAD v4:
3-148741144-A-G
COSMIC:
COSM4114297
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148741144A>G , CM000665.2:g.148741144A>G | GRCh38 |
| NC_000003.11:g.148458931A>G , CM000665.1:g.148458931A>G | GRCh37 |
| NC_000003.10:g.149941621A>G | NCBI36 |
| NG_008468.1:g.48274A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349243.8:c.109A>G MANE Select | ENSP00000273430.3:p.Ile37Val | |
| ENST00000402260.2:c.109A>G | ENSP00000385641.3:p.Ile37Val | |
| ENST00000418473.7:c.109A>G | ENSP00000398832.4:p.Ile37Val | |
| ENST00000349243.7:c.109A>G | ENSP00000273430.3:p.Ile37Val | |
| ENST00000402260.1:c.196A>G | ENSP00000385641.2:p.Ile66Val | |
| ENST00000404754.2:c.109A>G | ENSP00000385612.2:p.Ile37Val | |
| ENST00000418473.6:c.214A>G | ENSP00000398832.3:p.Ile72Val | |
| ENST00000461609.1:c.109A>G | ENSP00000418851.1:p.Ile37Val | |
| ENST00000474935.5:c.109A>G | ENSP00000418084.1:p.Ile37Val | |
| ENST00000475347.5:c.109A>G | ENSP00000419783.1:p.Ile37Val | |
| ENST00000497524.5:c.109A>G | ENSP00000419422.1:p.Ile37Val | |
| NM_000685.4:c.109A>G | NP_000676.1:p.Ile37Val | |
| NM_004835.4:c.214A>G | NP_004826.5:p.Ile72Val | |
| NM_009585.3:c.109A>G | NP_033611.1:p.Ile37Val | |
| NM_031850.3:c.214A>G | NP_114038.4:p.Ile72Val | |
| NM_032049.3:c.196A>G | NP_114438.2:p.Ile66Val | |
| NM_000685.5:c.109A>G MANE Select | NP_000676.1:p.Ile37Val | |
| NM_001382736.1:c.109A>G | NP_001369665.1:p.Ile37Val | |
| NM_001382737.1:c.109A>G | NP_001369666.1:p.Ile37Val | |
| NM_004835.5:c.109A>G | NP_004826.6:p.Ile37Val | |
| NM_009585.4:c.109A>G | NP_033611.1:p.Ile37Val | |
| NM_031850.4:c.109A>G | NP_114038.5:p.Ile37Val | |
| NM_032049.4:c.109A>G | NP_114438.3:p.Ile37Val |